LMNA, lamin A/C, 4000

N. diseases: 727; N. variants: 213
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0033300
Disease: Progeria
Progeria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 58 32 1.000 0.959 181 26 1993 2018
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
disease Cardiovascular Diseases Disease or Syndrome 387 121 1.000 0.921 70 47 1993 2018
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 15 0.910 1.000 10 15 2004 2015
Charcot-Marie-Tooth disease, Type 2B1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 3 0.900 8 3 1993 2016
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 8 70 0.800 1.000 65 70 1991 2017
Familial Partial Lipodystrophy, Type 2
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 13 23 0.800 1.000 47 21 1999 2018
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 19 0.800 0.929 30 19 2000 2016
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
disease Musculoskeletal Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 11 15 0.800 1.000 24 13 2002 2015
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 3 0.710 1.000 5 3 2003 2015
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 418 387 0.700 strong 0.988 139 45 1999 2018
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 32 12 0.700 0.950 69 11 1999 2017
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 92 31 0.700 strong 1.000 27 3 1996 2015
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 297 104 0.680 strong 1.000 10 4 1993 2007
Lethal tight skin contracture syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 11 0.600 14 3 2003 2016
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 4 0.600 9 4 2000 2016
CUI: C0796083
Disease: Najjar syndrome
Najjar syndrome
disease Cardiovascular Diseases Disease or Syndrome 1 2 0.600 3 2 2003 2009
CUI: C1857829
Disease: Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Slovenian type
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 2 0.600 3 2 2005 2015
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 3 0.530 1.000 4 3 2000 2013
Familial Partial Lipodystrophy, Type 1
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 10 0.510 1.000 5 2003 2009
Congenital muscular dystrophy (disorder)
disease Disease or Syndrome 66 10 0.500 strong 1.000 14 1 2004 2017
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group Congenital Abnormality 109 5 0.500 strong 2 2012 2014
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Disease or Syndrome 525 181 0.440 1.000 5 2 2008 2014
CUI: C0011644
Disease: Scleroderma
Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 178 2 0.410 1.000 2 2005 2010
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 16 14 0.400 0.961 80 10 2000 2017
CUI: C2750285
Disease: Progeria Syndrome, Childhood-Onset
Progeria Syndrome, Childhood-Onset
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 12 0.400 17 12 2001 2014